Results 221 to 230 of about 239,035 (361)

Subtle workplace discrimination inhibiting workers with intellectual disability from thriving at the workplace

, 2021
Jillian Cavanagh, Hannah Meacham, Patricia Pariona‐Cabrera, Timothy Bartram   +3 more
openalex   +2 more sources

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Comorbidities in People With Intellectual Disability With and Without Schizophrenia and Schizophrenia Without Intellectual Disability: A Swedish Register Study (IDcare). [PDF]

J Intellect Disabil Res
Bakken TL, Axmon A, Sandberg M.
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Life Story Work as an inclusive methodology to explore identity in intellectual disability. [PDF]

Front Psychiatry
Arellano A, Carrica-Ochoa S, Lizasoain O.   +2 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report. [PDF]

J Med Case Rep
Semyachkina AN, Nikolaeva EA, Gritsevskaya DI, Voinova VY, Kuramagomedova RG, Bochenkov SV, Groznova OS, Parfenenko MA, Kalashnikova OV, Isupova EA.   +9 more
europepmc   +1 more source

The Perceptions and Experiences of Taiwanese Parents who have Children with an Intellectual Disability [PDF]

, 2008
Mei‐Ying Chang, Roy McConkey
openalex   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Correction to "Co-Producing a Patient Reported Experience Measure (PREM) With and for People With Intellectual Disability". [PDF]

Health Expect
europepmc   +1 more source